About us
inGene diagnostics S.L. is a bioinformatics company based in Madrid (Spain), specialized in the analysis of next-generation sequencing (NGS) data for the diagnosis of genetic disorders. Our team of professionals is specialized in specific knowledge areas and has extensive experience in the genetic diagnosis of human disease. The health training of our geneticists, together with their active participation in clinical sessions, support the reliability of our genetic studies, which always integrate clinical and phenotypic information.
Our bioinformatic tools
inGene diagostics has developed its own analytical pipeline (Matseq), which follows the validation recommendations of the American Molecular Pathology Association (AMP) (Roy et al., 2018), and integrates BWA and Bowtie for aligning the sequence reads to the reference genome (hg38 assembly), GATK and VarDict for variant calling, ExomeDepth for copy number variation (CNV) detection and VEP for variant annotation. We have also developed a database of genomic variants (inGeneDB) that optimizes filtering and prioritization processes, and maximizes the precision and reliability of our studies. Both Matseq and inGeneDB have been integrated in a modular application (Jnomics) that provides the necessary tools for NGS data analysis and QC, as well as full traceability of the study processes, from sample registration to report delivery.
For more information about our tools and applications, please do not hesitate to contact us or visit our client area.
